EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (EIEE35)

Question 1

What is  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (EIEE35)?

Accepted Answer

rare

autosomal recessive

mutation in the ITPA gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616647

Question 3

Which enzymes are involved?

Accepted Answer

Inosine triphosphate pyrophosphatase

Disease	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (EIEE35)
OMIM	616647 OMIM = Online Mendelian Inheritance of Men
Orphanet	457375
Protein (UniProt)	Inosine triphosphate pyrophosphatase
ExPASy	3.6.1.19
Gene locus	20p13
ICD
Summary	rare autosomal recessive mutation in the ITPA gene
Laboratory findings
Symptoms	cardiomyopathy cardiomyopathy, dilated cataract cerebral atrophy developmental delay early death encephalopathy epilepsy feeding difficulties, poor feeding growth retardation, poor growth hypotonia intrauterine growth retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myelination, incomplete, hypomyelination onset, infancy onset, neonatal seizures